Canonical Allele Identifier: CA535757864

Gene:

Linked Data

• dbSNP Id: rs1446097750
• gnomAD v2: 2-121089816-AC-A
• gnomAD v3: 2-120332240-AC-A
• gnomAD v4: 2-120332240-AC-A
• MyVariant Identifiers: chr2:g.121089817del (hg19) ; chr2:g.120332241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332243del , CM000664.2:g.120332243del	GRCh38
NC_000002.11:g.121089819del , CM000664.1:g.121089819del	GRCh37
NC_000002.10:g.120806289del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3437del	XP_011510609.1:n.141+3437del